Introduction: Amenorrhea is absence or cessation of menses. If menstruation does not begin by the age of 16 years in the presence of female  secondary sexual maturation, or does not begin by 14 years in the  absence of secondary sexual maturation, the condition is classified as primary amenorrhea. If menstruation occurs, then ceases, and does not resume within 6 months, the condition is classified as secondary amenorrhea. Amenorrhea is a symptom of altered function of the hypothalamic-pituitary axis, the ovarian response to gonadotropins/commonly the result of chromosomal deletions/, the integrity of the genital outflow tract, or the mechanisms of sexual differentiation.

Methods: Lymphocyte cultures were established from patients with primary and secondary amenorrhoea. G-banded karyotypes were obtained according to standard protocols.

Results: In our laboratory, for the period of last ten years, we examined 165 patients, 129 with primary amenorrhoea and 16 with secondary amenorrhoea. In patients with primary amenorrhoea we found:

31 patients with abnormal karyotype     35.5 %

45 XO                                                  11

46 XY                                                  10

46 XiXq                                                 2

47 XX,+delXq                                         1

46 XX,(Xq-4p+)                                      1

Mosaic:

            45XO/ 46XiXq                                      3

            45XO, 46 XY                                        2

            46 XX/ 46 XXq-/ 47 XXX/ 45 XO-            1

In patients with secondary amenorrhoea we found:

2 patients with abnormal karyotype       5.5%

46 XXq-                                                 1

46 XXp-                                                 1

Conclusion: From the above presented data we can conclude that the primary amenorrhoea correlate high with abnormal karyotype.

Key words: primary amenorrhoea, secondary amenorrhoea, karyotype